Genetic Testing for SORD
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What is Sorbitol Dehydrogenase (SORD) Deficiency?
Sorbitol Dehydrogenase (SORD) Deficiency is a recently discovered rare, genetic metabolic disease.
People with SORD Deficiency are missing a key enzyme needed to metabolize a sugar called sorbitol.
Before the discovery of the SORD gene, patients with SORD Deficiency were diagnosed based on their symptoms as having Charcot-Marie-Tooth disease (CMT2) or distal hereditary motor neuropathy (dHMN). The recent discovery that disease symptoms in CMT2 and dHMN can be caused by genetic mutations in the SORD enzyme, now gives people living with SORD Deficiency, and their physicians, greater understanding of their specific disease. It also provides the opportunity to participate in a clinical trial of an investigational new treatment targeting the underlying cause of SORD Deficiency.
How many people have SORD Deficiency?
SORD Deficiency is a rare disease that impacts 1 in every 100,000 people. In the US, it is estimated that there are only 3,300 individuals living with the disease.
SORD Deficiency is a form of hereditary neuropathy, which means that this disease was passed down from both parents’ genes. Not all people with SORD Deficiency have a family history of hereditary neuropathy.
What happens in the body of someone living with SORD Deficiency?
Glucose is a simple sugar that the body converts into fructose for energy. One of the ways the body breaks down glucose is through a two-step metabolic pathway.
In this metabolic pathway, two enzymes work to process glucose and then sorbitol.
- In the first step, the enzyme Aldose Reductase metabolizes glucose into sorbitol
- In the second step, the enzyme Sorbitol Dehydrogenase (SORD) converts sorbitol into fructose
Inspire Clinical Trial - PDF
An introduction to SORD Deficiency - PDF
Applied Therapeutics, Inc. has announced that their drug candidate, AT-007 (Govorestat), has received orphan medicinal product designation
Clinical Trial Update for SORD Deficiency – Applied Therapeutics – Dr. Shoshana Shendelman
HNF Partner Applied Therapeutics is Currently Enrolling SORD Deficiency Patients for the INSPIRE Phase III Clinical Trial
Join us for this webinar as we learn more about Sorbitol Dehydrogenase (SORD) Deficiency
Applied Therapeutics Announces Initiation of Registrational Phase 2/3 Study of AT-007 in SORD Deficiency
Research from a mutation on the SORD gene
A new type of Charcot-Marie-Tooth (CMT) has recently been identified caused by mutations in the SORD gene.
Novel findings of a new common type of CMT2 that might be the 1st step to a treatment: SORD gene deficiency, the most common autosomal-recessive type of CMT
a mutation in the SORD gene that may may affect 60,000 patients worldwide